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Advice regarding my daughters physical development issues

6 replies

jamesuk · 08/02/2019 21:24

Hi, just wanted some advice on my daughter who is now 15 months old, me and my partner just don’t know if we should be worried or not.

Her current symptoms are:

Physical development delay.
Low muscle tone in legs.
Some hyper mobility
Slight tremor during some movement
Eye movements not always smooth when focusing / looking around.

She has always been behind when it comes to physical development, she only started sitting at around 9 months and even then needed a lot of support due to falling after a while and not really trying to save her. We still have cushions around her a lot as even though she is much better she still falls sometimes even now.

She has been under physio for a few months now and we have exercises to help her core muscles, she does appear to be getting a little better and keeping herself up but still won’t really do anything else.

She has never really rolled over fully, when she tries to roll from her back to stomach she end up in a L position with her legs right out, this means when she tried to roll her legs always stop her going over. She tends to have less power if on her stomach so doesn’t really roll back over onto her back.

She has never crawled while on her stomach and finds it pretty hard to push herself up to try so often gives up quick.

If we try to stand her up she will sometimes take weight but also often just bends her legs into a kneeling position and gives up, we sometimes stand her up again something like the sofa and she seems to be a little better at this but also seems to just be leaning against it.

She tends not to like the exercises we got from the physio and often tenses up while doing them, one she does do pretty well is sitting on a small step and reaching fot toys that are places a bit away from her.

She is under a paediatrician, who has seen her a couple of times, they run a genetic blood test which looks for bigger more obvious mutations but that come back normal, they mentioned another genetic test called the 100,000 genome project but this is no longer funded, this looks at things in more depth.

The paediatrician said she does think something is holding her and is probably genetic, but is very hard to pin point what it is and from her viewpoint there’s not a lot more she can do.

For now we are carrying on the physio and she is referring our girl to neurology and ophthalmology to see if they can offer in regards to her issues.

Its left us feeling a bit lost though, we aren’t sure if something is wrong or if it still may just be nothing and that she is just being lazy. It feels like they are basically saying she does have a problem but we just don’t know what it is yet or if its something that will hold her back long term.

I should point out that she seems to be doing perfectly fine when it comes to other milestones such as speech and things like communication etc.. she babbles away all the time and says certain words, she loves music and is generally very happy.

Is there anything anyone would recommend or any advice?

Thanks

Jim.

OP posts:
anniehm · 08/02/2019 21:30

Hugs, don't have any insight to what it could be, there's so many things, some very rare. Do ask about your family because it could be something that "wasn't talked about" in years gone by. The only thing I can tell you is that some children are very late developers but do get there in the end - seeing a friends kid run over to me (after me living elsewhere for 10 years) when the last time I saw him he was 3 years old in a wheelchair made me realise how we don't know - he has cerebral palsy but it is relatively mild.

OhWifey · 08/02/2019 21:39

She sounds very much like my daughter, who is now 5 and without a diagnosis still although has lots of known issues - just nothing to tie them together. It sounds like you're getting the support you need from a medical standpoint in terms of investigations. Make sure you're shored up emotionally too as it's incredibly draining being constantly worried about your child and going to appts all the time. I'd recommend the charity SWAN UK which supports families who have a child with an undiagnosed genetic condition. Look it up. There's a very supportive Facebook group.

Singlenotsingle · 08/02/2019 21:49

I know a child very much like this. She's 2 and not doing a lot physically. She can just about get up into a crawling position. No diagnosis yet although cerebral palsy has been mentioned.

Justletmego · 08/02/2019 21:58

I think you need to just hang tight and give it time, sounds very similar to my DD and she started to walk by about 2.5 with reasonable walking around 3. She still struggles day to day and her mobility is still very variable but she is up and walking, learning to run and we've even seen a little attempts now at jumping.

My dd has other issues but they were more apparent as she moved towards 18 months plus, her speech is now delayed whereas previously I would have said and did think it was okay.

My dd is part of the 100k genome project, I'm sorry it was too late for you. It closed back in March but I am sure soon enough another project will come along and certainly they can run individual genetic tests. As children get older it will be easier to pin point which genetic panels to run for this. If they've suggested the 100k then there will be some markers and I suspect genetics will be key later down the line for you all.

ElyElyOy · 08/02/2019 22:35

My son has a few issues and we are basically being as monitored and assessed as he can be for now (he’s 20 months).

It’s hard, especially when you feel like you don’t know what you are supposed to be looking for. The Special Needs area on here is brilliant, and as someone has already mentioned SWAN are very good.

Maybe have a chat with your HV. They will be able to reassure you about ongoing monitoring support, and also any groups in your area for parents with children with additional needs.

Just to add, we have found a play kitchen has really helped my son with his low muscle tone: because things are at different levels he has to reach and bend and squat etc, so we put things in the cupboards and hide them etc. He didn’t start being able to use it until he was about 17 months, but since then it’s really helped x

Paradyning · 09/02/2019 21:33

I was going to mention 100000 genome project. The government says they are going to reopen testing for everyone so hopefully soon you'll be able to access something.
I would recommend pushing for a medical geneticist appointment through your paed.
And also also recommend Swan UK.

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